ARHGAP8

Rho GTPase activating protein 8, the group of Rho GTPase activating proteins|BCH domain containing

Basic information

Region (hg38): 22:44752558-44862788

Links

ENSG00000241484 ∙ NCBI:23779 ∙ OMIM:609405 ∙ HGNC:677 ∙ Uniprot:P85298 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARHGAP8 gene.

• not_specified (89 variants)
• not_provided (10 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181335.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	1	5
missense			81	8	2	91
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	12	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP8	protein_coding	protein_coding	ENST00000389773	15	160311

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.52e-28	0.00000393	124109	1	459	124569	0.00185

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.19	562	344	1.64	0.0000226	3567
Missense in Polyphen		137	93.787	1.4608		1091
Synonymous	-6.17	255	157	1.63	0.0000116	1101
Loss of Function	-1.62	36	26.9	1.34	0.00000123	311

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00680	0.00677
Ashkenazi Jewish	0.00189	0.00189
East Asian	0.00707	0.00704
Finnish	0.0000933	0.0000924
European (Non-Finnish)	0.000572	0.000557
Middle Eastern	0.00707	0.00704
South Asian	0.000784	0.000719
Other	0.00139	0.00131

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000250}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases;Regulation of RhoA activity (Consensus)

Recessive Scores

• pRec: 0.139

Intolerance Scores

• loftool: 0.973
• rvis_EVS: 2.3
• rvis_percentile_EVS: 98.33

Haploinsufficiency Scores

• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.230

Mouse Genome Informatics

• Gene name: Arhgap8

Gene ontology

• Biological process: signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction;positive regulation of ERK1 and ERK2 cascade
• Cellular component: cytosol
• Molecular function: GTPase activator activity;protein binding